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Gene

FTSJ1

FtsJ RNA 2'-O-methyltransferase 1

Summary

Cytogenetic location
Xp11.23
Coordinates
Chromosome X: 48,476,199–48,486,350 (GRCh38)
Exons
13 exons across 10.2 kb
Protein
329 amino acids
Also known as
JM23, CDLIV, SPB1, TRM7, TRMT7
Previous symbols
MRX9, MRX44
MANE Select transcript
ENST00000348411.3NM_012280.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Epilepsy (Full Panel)

    • X-Linked Complex Neurodevelopmental Disorder

      A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong

Broader groupings

How FTSJ1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where FTSJ1 sits. FTSJ1 and 31 genes near it on chromosome X, from 47,981,275 to 48,981,274.Chromosome XXp11.23p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2848 Mb48.2 Mb48.4 Mb48.6 Mb48.8 MbZNF81: 47,836,471–48,003,066, forward strandZNF81ZNF182: 47,974,851–48,004,375, reverse strandZNF182ZNF630: 47,983,356–48,071,893, reverse strandZNF630SPACA5: 48,004,336–48,009,735, forward strandSPACA5SPACA5B: 48,130,626–48,132,620, forward strandSPACA5BSSX5: 48,186,220–48,196,797, reverse strandSSX5SSX1: 48,255,368–48,267,444, forward strandSSX1SSX3: 48,337,725–48,356,750, reverse strandSSX3SSX4: 48,383,516–48,393,347, forward strandSSX4SSX4B: 48,402,082–48,411,960, reverse strandSSX4BSLC38A5: 48,458,536–48,470,554, reverse strandSLC38A5FTSJ1: 48,476,199–48,486,350, forward strandFTSJ1PORCN: 48,508,574–48,520,814, forward strandPORCNEBP: 48,521,089–48,528,716, forward strandEBP: 48,521,806–48,545,469, forward strandTBC1D25: 48,539,623–48,562,613, forward strandTBC1D25RBM3: 48,574,056–48,581,162, forward strandRBM3WDR13: 48,589,838–48,608,869, forward strandWDR13WAS: 48,676,593–48,691,431, forward strandWASSUV39H1: 48,695,554–48,709,556, forward strandSUV39H1GLOD5: 48,761,744–48,773,648, forward strandGLOD5GATA1: 48,783,122–48,794,311, forward strandGATA1HDAC6: 48,801,372–48,824,986, forward strandHDAC6ERAS: 48,826,513–48,830,138, forward strandERASPCSK1N: 48,831,088–48,835,632, reverse strandPCSK1NTIMM17B: 48,880,274–48,898,143, reverse strandTIMM17BPQBP1: 48,890,197–48,903,640, forward strandPQBP1SLC35A2: 48,903,180–48,911,958, reverse strandSLC35A2PIM2: 48,913,172–48,919,546, reverse strandPIM2OTUD5: 48,922,024–48,958,390, reverse strandKCND1: 48,960,982–48,971,916, reverse strandKCND1GRIPAP1: 48,973,719–49,002,265, reverse strandGRIPAP1Diagram of FTSJ1: 13 exons on the forward strand of chromosome XExon 9: 2 known disease-causing sitesExon 1: 48,476,199–48,476,396, 198 basesExon 2: 48,477,961–48,478,168, 208 basesExon 3: 48,478,449–48,478,518, 70 basesExon 4: 48,478,617–48,478,707, 91 basesExon 5: 48,479,038–48,479,116, 79 basesExon 6: 48,481,151–48,481,203, 53 basesExon 7: 48,481,289–48,481,342, 54 basesExon 8: 48,481,426–48,481,528, 103 basesExon 9: 48,481,632–48,481,715, 84 basesExon 10: 48,482,403–48,482,506, 104 basesExon 11: 48,482,597–48,482,794, 198 basesExon 12: 48,482,986–48,483,027, 42 basesExon 13: 48,485,736–48,486,350, 615 bases124681012135′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.9 kb of the gene's 10.2 kb; 990 of those bases code for the protein.

How a genome test reads FTSJ1

4

positions in FTSJ1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 10.2 kb of FTSJ1, introns included, not only the 1.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). FTSJ1 gene: FtsJ RNA 2'-O-methyltransferase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ftsj1

Vancouver

Dante Labs. FTSJ1 gene: FtsJ RNA 2'-O-methyltransferase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ftsj1

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